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Entry version 144 (02 Dec 2020)
Sequence version 1 (07 Dec 2004)
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Protein

Regulation of nuclear pre-mRNA domain-containing protein 2

Gene

RPRD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q5VT52

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6807505, RNA polymerase II transcribes snRNA genes

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Regulation of nuclear pre-mRNA domain-containing protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RPRD2
Synonyms:KIAA0460
ORF Names:HSPC099
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...
EuPathDBi
HostDB:ENSG00000163125.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29039, RPRD2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614695, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5VT52

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
23248

Open Targets

More...
OpenTargetsi
ENSG00000163125

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162402062

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q5VT52, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RPRD2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74746888

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002443552 – 1461Regulation of nuclear pre-mRNA domain-containing protein 2Add BLAST1460

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanine1 Publication1
Modified residuei16PhosphoserineCombined sources1
Modified residuei356PhosphoserineCombined sources1
Modified residuei358PhosphothreonineCombined sources1
Modified residuei374PhosphoserineCombined sources1
Modified residuei473PhosphoserineCombined sources1
Modified residuei476PhosphoserineCombined sources1
Modified residuei479PhosphoserineCombined sources1
Modified residuei482PhosphothreonineCombined sources1
Modified residuei485PhosphoserineCombined sources1
Modified residuei517PhosphothreonineCombined sources1
Modified residuei564PhosphoserineCombined sources1
Modified residuei593PhosphoserineCombined sources1
Modified residuei598PhosphothreonineCombined sources1
Modified residuei614PhosphoserineCombined sources1
Modified residuei663PhosphoserineCombined sources1
Modified residuei665PhosphoserineCombined sources1
Modified residuei716PhosphoserineCombined sources1
Modified residuei723PhosphothreonineCombined sources1
Modified residuei730PhosphoserineBy similarity1
Modified residuei732PhosphothreonineCombined sources1
Modified residuei758PhosphoserineCombined sources1
Modified residuei762PhosphoserineCombined sources1
Modified residuei763PhosphothreonineCombined sources1
Modified residuei769PhosphoserineCombined sources1
Modified residuei817PhosphoserineCombined sources1
Modified residuei826PhosphoserineCombined sources1
Modified residuei900PhosphoserineCombined sources1
Modified residuei909PhosphoserineCombined sources1
Modified residuei928PhosphoserineCombined sources1
Modified residuei965PhosphoserineCombined sources1
Modified residuei976PhosphoserineCombined sources1
Modified residuei1068PhosphoserineBy similarity1
Modified residuei1099PhosphoserineCombined sources1
Modified residuei1366Asymmetric dimethylarginineCombined sources1
Modified residuei1424Asymmetric dimethylarginineCombined sources1
Modified residuei1430Asymmetric dimethylarginineCombined sources1

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q5VT52

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5VT52

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q5VT52

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q5VT52

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q5VT52

PeptideAtlas

More...
PeptideAtlasi
Q5VT52

PRoteomics IDEntifications database

More...
PRIDEi
Q5VT52

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
5845
65302 [Q5VT52-1]
65303 [Q5VT52-2]
65304 [Q5VT52-3]
65305 [Q5VT52-4]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
2891, 1 O-Linked glycan (2 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q5VT52, 8 sites, 1 O-linked glycan (8 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5VT52

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
Q5VT52

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q5VT52

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000163125, Expressed in oocyte and 254 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5VT52, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000163125, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Associates with the RNA polymerase II complex.

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
116852, 44 interactors

Database of interacting proteins

More...
DIPi
DIP-31155N

Protein interaction database and analysis system

More...
IntActi
Q5VT52, 24 interactors

Molecular INTeraction database

More...
MINTi
Q5VT52

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000358064

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q5VT52, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11461
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q5VT52

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini19 – 149CIDPROSITE-ProRule annotationAdd BLAST131

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi4 – 19Gly/Ser-richAdd BLAST16
Compositional biasi457 – 950Ser-richAdd BLAST494
Compositional biasi1054 – 1057Poly-Gln4
Compositional biasi1152 – 1158Poly-Gly7
Compositional biasi1195 – 1459Pro-richAdd BLAST265

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2669, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000183094

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_144992_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5VT52

Identification of Orthologs from Complete Genome Data

More...
OMAi
NYSHRAQ

Database of Orthologous Groups

More...
OrthoDBi
1091009at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5VT52

TreeFam database of animal gene trees

More...
TreeFami
TF320926

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.90, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006569, CID_dom
IPR032337, CREPT
IPR008942, ENTH_VHS

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04818, CID, 1 hit
PF16566, CREPT, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00582, RPR, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48464, SSF48464, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51391, CID, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q5VT52-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAGGGGGSS KASSSSASSA GALESSLDRK FQSVTNTMES IQGLSSWCIE
60 70 80 90 100
NKKHHSTIVY HWMKWLRRSA YPHRLNLFYL ANDVIQNCKR KNAIIFRESF
110 120 130 140 150
ADVLPEAAAL VKDPSVSKSV ERIFKIWEDR NVYPEEMIVA LREALSTTFK
160 170 180 190 200
TQKQLKENLN KQPNKQWKKS QTSTNPKAAL KSKIVAEFRS QALIEELLLY
210 220 230 240 250
KRSEDQIELK EKQLSTMRVD VCSTETLKCL KDKTGGKKFS KEFEEASSKL
260 270 280 290 300
EEFVNGLDKQ VKNGPSLTEA LENAGIFYEA QYKEVKVVAN AYKTFANRVN
310 320 330 340 350
NLKKKLDQLK STLPDPEESP VPSPSMDAPS PTGSESPFQG MGGEESQSPT
360 370 380 390 400
MESEKSATPE PVTDNRDVED MELSDVEDDG SKIIVEDRKE KPAEKSAVST
410 420 430 440 450
SVPTKPTENI SKASSCTPVP VTMTATPPLP KPVNTSLSPS PALALPNLAN
460 470 480 490 500
VDLAKISSIL SSLTSVMKNT GVSPASRPSP GTPTSPSNLT SGLKTPAPAT
510 520 530 540 550
TTSHNPLANI LSKVEITPES ILSALSKTQT QSAPALQGLS SLLQSVTGNP
560 570 580 590 600
VPASEAASQS TSASPANTTV STIKGRNLPS SAQPFIPKSF NYSPNSSTSE
610 620 630 640 650
VSSTSASKAS IGQSPGLPST TFKLPSNSLG FTATHNTSPA APPTEVTICQ
660 670 680 690 700
SSEVSKPKLE SESTSPSLEM KIHNFLKGNP GFSGLNLNIP ILSSLGSSAP
710 720 730 740 750
SESHPSDFQR GPTSTSIDNI DGTPVRDERS GTPTQDEMMD KPTSSSVDTM
760 770 780 790 800
SLLSKIISPG SSTPSSTRSP PPGRDESYPR ELSNSVSTYR PFGLGSESPY
810 820 830 840 850
KQPSDGMERP SSLMDSSQEK FYPDTSFQED EDYRDFEYSG PPPSAMMNLE
860 870 880 890 900
KKPAKSILKS SKLSDTTEYQ PILSSYSHRA QEFGVKSAFP PSVRALLDSS
910 920 930 940 950
ENCDRLSSSP GLFGAFSVRG NEPGSDRSPS PSKNDSFFTP DSNHNSLSQS
960 970 980 990 1000
TTGHLSLPQK QYPDSPHPVP HRSLFSPQNT LAAPTGHPPT SGVEKVLAST
1010 1020 1030 1040 1050
ISTTSTIEFK NMLKNASRKP SDDKHFGQAP SKGTPSDGVS LSNLTQPSLT
1060 1070 1080 1090 1100
ATDQQQQEEH YRIETRVSSS CLDLPDSTEE KGAPIETLGY HSASNRRMSG
1110 1120 1130 1140 1150
EPIQTVESIR VPGKGNRGHG REASRVGWFD LSTSGSSFDN GPSSASELAS
1160 1170 1180 1190 1200
LGGGGSGGLT GFKTAPYKER APQFQESVGS FRSNSFNSTF EHHLPPSPLE
1210 1220 1230 1240 1250
HGTPFQREPV GPSSAPPVPP KDHGGIFSRD APTHLPSVDL SNPFTKEAAL
1260 1270 1280 1290 1300
AHAAPPPPPG EHSGIPFPTP PPPPPPGEHS SSGGSGVPFS TPPPPPPPVD
1310 1320 1330 1340 1350
HSGVVPFPAP PLAEHGVAGA VAVFPKDHSS LLQGTLAEHF GVLPGPRDHG
1360 1370 1380 1390 1400
GPTQRDLNGP GLSRVRESLT LPSHSLEHLG PPHGGGGGGG SNSSSGPPLG
1410 1420 1430 1440 1450
PSHRDTISRS GIILRSPRPD FRPREPFLSR DPFHSLKRPR PPFARGPPFF
1460
APKRPFFPPR Y
Length:1,461
Mass (Da):156,020
Last modified:December 7, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE08CAF3148F89F67
GO
Isoform 2 (identifier: Q5VT52-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-37: Missing.

Show »
Length:1,424
Mass (Da):152,588
Checksum:iEFB18C42C73F5B93
GO
Isoform 3 (identifier: Q5VT52-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     146-171: Missing.

Show »
Length:1,435
Mass (Da):152,876
Checksum:i3425769AF329312E
GO
Isoform 4 (identifier: Q5VT52-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     147-152: TTFKTQ → KCLFLS
     153-1461: Missing.

Show »
Length:152
Mass (Da):17,001
Checksum:i4FFBE10E974AC878
GO
Isoform 5 (identifier: Q5VT52-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     146-171: Missing.
     932-960: SKNDSFFTPDSNHNSLSQSTTGHLSLPQK → KHPCRSHGSPTHVRRGESPGLHHFHHVDD
     961-1461: Missing.

Show »
Length:934
Mass (Da):100,272
Checksum:iA3D3BB446939BB42
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAF28922 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH45623 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti167W → C in AAF28922 (Ref. 6) Curated1
Sequence conflicti174T → A in BAG51793 (PubMed:14702039).Curated1
Sequence conflicti1297P → L in BAG51793 (PubMed:14702039).Curated1
Sequence conflicti1385G → R in BAG51793 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_061700351M → V. Corresponds to variant dbSNP:rs41273537Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0195461 – 37Missing in isoform 2. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_019547146 – 171Missing in isoform 3 and isoform 5. 2 PublicationsAdd BLAST26
Alternative sequenceiVSP_035574147 – 152TTFKTQ → KCLFLS in isoform 4. Curated6
Alternative sequenceiVSP_035575153 – 1461Missing in isoform 4. CuratedAdd BLAST1309
Alternative sequenceiVSP_053733932 – 960SKNDS…SLPQK → KHPCRSHGSPTHVRRGESPG LHHFHHVDD in isoform 5. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_053734961 – 1461Missing in isoform 5. 1 PublicationAdd BLAST501

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AK056707 mRNA Translation: BAG51793.1
AK291703 mRNA Translation: BAF84392.1
AK304380 mRNA Translation: BAG65218.1
BX641025 mRNA Translation: CAE46016.1
AL356356 Genomic DNA No translation available.
AL611942 Genomic DNA No translation available.
BX284695 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53552.1
BC045623 mRNA Translation: AAH45623.2 Different initiation.
AF161362 mRNA Translation: AAF28922.1 Different initiation.
AB007929 mRNA Translation: BAA32305.2

The Consensus CDS (CCDS) project

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CCDSi
CCDS44216.1 [Q5VT52-1]
CCDS72907.1 [Q5VT52-3]

Protein sequence database of the Protein Information Resource

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PIRi
T00074

NCBI Reference Sequences

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RefSeqi
NP_001284602.1, NM_001297673.1 [Q5VT52-5]
NP_001284603.1, NM_001297674.1 [Q5VT52-3]
NP_056018.2, NM_015203.4 [Q5VT52-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000369067; ENSP00000358063; ENSG00000163125 [Q5VT52-4]
ENST00000369068; ENSP00000358064; ENSG00000163125 [Q5VT52-1]
ENST00000401000; ENSP00000383785; ENSG00000163125 [Q5VT52-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23248

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23248

UCSC genome browser

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UCSCi
uc001eup.5, human [Q5VT52-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056707 mRNA Translation: BAG51793.1
AK291703 mRNA Translation: BAF84392.1
AK304380 mRNA Translation: BAG65218.1
BX641025 mRNA Translation: CAE46016.1
AL356356 Genomic DNA No translation available.
AL611942 Genomic DNA No translation available.
BX284695 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53552.1
BC045623 mRNA Translation: AAH45623.2 Different initiation.
AF161362 mRNA Translation: AAF28922.1 Different initiation.
AB007929 mRNA Translation: BAA32305.2
CCDSiCCDS44216.1 [Q5VT52-1]
CCDS72907.1 [Q5VT52-3]
PIRiT00074
RefSeqiNP_001284602.1, NM_001297673.1 [Q5VT52-5]
NP_001284603.1, NM_001297674.1 [Q5VT52-3]
NP_056018.2, NM_015203.4 [Q5VT52-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4FLBX-ray1.80A19-149[»]
SMRiQ5VT52
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi116852, 44 interactors
DIPiDIP-31155N
IntActiQ5VT52, 24 interactors
MINTiQ5VT52
STRINGi9606.ENSP00000358064

PTM databases

GlyConnecti2891, 1 O-Linked glycan (2 sites)
GlyGeniQ5VT52, 8 sites, 1 O-linked glycan (8 sites)
iPTMnetiQ5VT52
MetOSiteiQ5VT52
PhosphoSitePlusiQ5VT52

Polymorphism and mutation databases

BioMutaiRPRD2
DMDMi74746888

Proteomic databases

EPDiQ5VT52
jPOSTiQ5VT52
MassIVEiQ5VT52
MaxQBiQ5VT52
PaxDbiQ5VT52
PeptideAtlasiQ5VT52
PRIDEiQ5VT52
ProteomicsDBi5845
65302 [Q5VT52-1]
65303 [Q5VT52-2]
65304 [Q5VT52-3]
65305 [Q5VT52-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
10548, 54 antibodies

The DNASU plasmid repository

More...
DNASUi
23248

Genome annotation databases

EnsembliENST00000369067; ENSP00000358063; ENSG00000163125 [Q5VT52-4]
ENST00000369068; ENSP00000358064; ENSG00000163125 [Q5VT52-1]
ENST00000401000; ENSP00000383785; ENSG00000163125 [Q5VT52-3]
GeneIDi23248
KEGGihsa:23248
UCSCiuc001eup.5, human [Q5VT52-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23248
DisGeNETi23248
EuPathDBiHostDB:ENSG00000163125.15

GeneCards: human genes, protein and diseases

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GeneCardsi
RPRD2
HGNCiHGNC:29039, RPRD2
HPAiENSG00000163125, Low tissue specificity
MIMi614695, gene
neXtProtiNX_Q5VT52
OpenTargetsiENSG00000163125
PharmGKBiPA162402062

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2669, Eukaryota
GeneTreeiENSGT00950000183094
HOGENOMiCLU_144992_0_0_1
InParanoidiQ5VT52
OMAiNYSHRAQ
OrthoDBi1091009at2759
PhylomeDBiQ5VT52
TreeFamiTF320926

Enzyme and pathway databases

PathwayCommonsiQ5VT52
ReactomeiR-HSA-6807505, RNA polymerase II transcribes snRNA genes

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
23248, 60 hits in 858 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
RPRD2, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
KIAA0460

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
23248
PharosiQ5VT52, Tdark

Protein Ontology

More...
PROi
PR:Q5VT52
RNActiQ5VT52, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000163125, Expressed in oocyte and 254 other tissues
GenevisibleiQ5VT52, HS

Family and domain databases

Gene3Di1.25.40.90, 1 hit
InterProiView protein in InterPro
IPR006569, CID_dom
IPR032337, CREPT
IPR008942, ENTH_VHS
PfamiView protein in Pfam
PF04818, CID, 1 hit
PF16566, CREPT, 1 hit
SMARTiView protein in SMART
SM00582, RPR, 1 hit
SUPFAMiSSF48464, SSF48464, 1 hit
PROSITEiView protein in PROSITE
PS51391, CID, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRPRD2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q5VT52
Secondary accession number(s): A8K6N8
, B3KPT1, B4E2Q6, O75048, Q5VT51, Q5VT53, Q6MZL4, Q86XD2, Q9P0D7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: December 7, 2004
Last modified: December 2, 2020
This is version 144 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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